These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
236 related articles for article (PubMed ID: 23649895)
21. [Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency]. Zhang H; Lang Y; Zhang K; Li X; Liu Y; Gai Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):848-851. PubMed ID: 30512161 [TBL] [Abstract][Full Text] [Related]
22. Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases. Zhang L; Zou Y; Lu Y; Li Z; Gao F Bioorg Chem; 2023 Jan; 130():106253. PubMed ID: 36356370 [TBL] [Abstract][Full Text] [Related]
24. Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency. Nitzahn M; Allegri G; Khoja S; Truong B; Makris G; Häberle J; Lipshutz GS Mol Ther; 2020 Jul; 28(7):1717-1730. PubMed ID: 32359471 [TBL] [Abstract][Full Text] [Related]
25. Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. Kurokawa K; Yorifuji T; Kawai M; Momoi T; Nagasaka H; Takayanagi M; Kobayashi K; Yoshino M; Kosho T; Adachi M; Otsuka H; Yamamoto S; Murata T; Suenaga A; Ishii T; Terada K; Shimura N; Kiwaki K; Shintaku H; Yamakawa M; Nakabayashi H; Wakutani Y; Nakahata T J Hum Genet; 2007; 52(4):349-354. PubMed ID: 17310273 [TBL] [Abstract][Full Text] [Related]
26. CPS1: Looking at an ancient enzyme in a modern light. Nitzahn M; Lipshutz GS Mol Genet Metab; 2020 Nov; 131(3):289-298. PubMed ID: 33317798 [TBL] [Abstract][Full Text] [Related]
27. Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency. Dong H; Sang T; Ma X; Song J; Chen Z; Zhang H; Jin Y; Li M; Dong D; Sun L; Zhu Z; Zhang Y; Yang Y BMC Pediatr; 2024 Aug; 24(1):539. PubMed ID: 39174957 [TBL] [Abstract][Full Text] [Related]
28. Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency. Gragnaniello V; Gueraldi D; Puma A; Commone A; Loro C; Cazzorla C; Häberle J; Burlina AB J Pediatr Endocrinol Metab; 2023 Sep; 36(9):873-878. PubMed ID: 37427576 [TBL] [Abstract][Full Text] [Related]
29. Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. Funghini S; Thusberg J; Spada M; Gasperini S; Parini R; Ventura L; Meli C; De Cosmo L; Sibilio M; Mooney SD; Guerrini R; Donati MA; Morrone A Gene; 2012 Feb; 493(2):228-34. PubMed ID: 22173106 [TBL] [Abstract][Full Text] [Related]
30. Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Laemmle A; Hahn D; Hu L; Rüfenacht V; Gautschi M; Leibundgut K; Nuoffer JM; Häberle J Mol Genet Metab; 2015 Mar; 114(3):438-44. PubMed ID: 25639153 [TBL] [Abstract][Full Text] [Related]
34. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Funghini S; Donati MA; Pasquini E; Zammarchi E; Morrone A Hum Mutat; 2003 Oct; 22(4):340-1. PubMed ID: 12955727 [TBL] [Abstract][Full Text] [Related]
35. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Häberle J; Shchelochkov OA; Wang J; Katsonis P; Hall L; Reiss S; Eeds A; Willis A; Yadav M; Summar S; ; Lichtarge O; Rubio V; Wong LJ; Summar M Hum Mutat; 2011 Jun; 32(6):579-89. PubMed ID: 21120950 [TBL] [Abstract][Full Text] [Related]
36. Hepatic glutamine synthetase augmentation enhances ammonia detoxification. Soria LR; Nitzahn M; De Angelis A; Khoja S; Attanasio S; Annunziata P; Palmer DJ; Ng P; Lipshutz GS; Brunetti-Pierri N J Inherit Metab Dis; 2019 Nov; 42(6):1128-1135. PubMed ID: 30724386 [TBL] [Abstract][Full Text] [Related]
37. The activity of the carbamoyl phosphate synthase 1 promoter in human liver-derived cells is dependent on hepatocyte nuclear factor 3-beta. Chen Z; Tang N; Wang X; Chen Y J Cell Mol Med; 2017 Sep; 21(9):2036-2045. PubMed ID: 28272778 [TBL] [Abstract][Full Text] [Related]
38. Purification of carbamoyl phosphate synthetase 1 (CPS1) from wood frog (Rana sylvatica) liver and its regulation in response to ice-nucleation and subsequent whole-body freezing. Green SR; Storey KB Mol Cell Biochem; 2019 May; 455(1-2):29-39. PubMed ID: 30421312 [TBL] [Abstract][Full Text] [Related]
39. Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency. Yamaguchi M; Kataoka TR; Shibayama T; Fukuda A; Nakazawa A; Minamiguchi S; Sakurai T; Miyagawa-Hayashino A; Yorifuji T; Kasahara M; Uemoto S; Haga H Pathol Int; 2016 Jun; 66(6):333-6. PubMed ID: 27150549 [TBL] [Abstract][Full Text] [Related]
40. Y-box binding protein-1 down-regulates expression of carbamoyl phosphate synthetase-I by suppressing CCAAT enhancer-binding protein-alpha function in mice. Chen YR; Sekine K; Nakamura K; Yanai H; Tanaka M; Miyajima A Gastroenterology; 2009 Jul; 137(1):330-40. PubMed ID: 19272383 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]